Status:
COMPLETED
Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Conditions:
Autosomal Recessive Congenital Ichthyosis
Epidermolytic Ichthyosis
Eligibility:
All Genders
15-80 years
Phase:
NA
Brief Summary
The goal of this study is to identify important biological pathways involved in a variety of ichtyosis, using transcriptomic and proteomic techniques, with the aim of guiding the development of new th...
Eligibility Criteria
Inclusion
- Aged 15-80 years old
- Having an ARCI or EI, confirmed by a molecular diagnosis of a mutation in at least one of the following genes: TGM1, ALOX12B, NIPAL4, ABCA12, keratin 1 and keratin 10)
- Having stopped all topical treatments in at least 1% of the total body surface (equivalent to one palm of the hand of the patient), at least 8 days before the skin biopsy (which will be performed on this untreated area).
- Patients having a molecular diagnostic of genetic ichtyosis
- No contraindication to skin biopsy
- Health insurance coverage
- Signature of written consent
Exclusion
- Aged less than 15 of over 80 years old
- Ichtyosis without a molecular confirmed diagnosis or with a different diagnosis
- History, in the 8 previous days, of any topical treatment on the area intended for the skin biopsy.
- No health insurance coverage
- Pregnant or breastfeeding woman
- Patient under guardianship or curatorship
- Patient under State Medical Assistance (AME)
Key Trial Info
Start Date :
December 7 2022
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
April 6 2024
Estimated Enrollment :
18 Patients enrolled
Trial Details
Trial ID
NCT05312073
Start Date
December 7 2022
End Date
April 6 2024
Last Update
July 16 2024
Active Locations (1)
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1
Saint Louis Hospital
Paris, France, 75010